Page last updated: 2024-09-27

Amish Brittle Hair Brain Syndrome

Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

Synonyms(16)

Synonym
Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
IBIDS Syndrome
Photosensitive Trichothiodystrophy
Amish Brittle Hair Brain Syndrome
Amish Brittle Hair Syndrome
PIBIDS Syndrome
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Trichothiodystrophy
Trichothiodystrophy Syndromes
BIDS Syndrome
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation
Hair-Brain Syndrome
Trichothiodystrophy with Congenital Ichtyosis
Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Photosensitive
Tay Syndrome

Research Excerpts

Research

Studies (20)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (15.00)18.1394
2010's11 (55.00)28.8240
2020's6 (30.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
metronidazole0low10
minoxidil0low10
spironolactone0low10
triiodothyronine0low10
glutamine0low10
arginine0low10
citrulline0low10
pyrimidine dimers0low30
biotin0low10
cystine0low10
myelin basic protein0low10
cholecalciferol0low20
sulfur0low40
eye0low10

Protein Targets (231)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
thioredoxin reductase3003
phosphopantetheinyl transferase2002
NFKB1 protein, partial1001
GLS protein2002
thyroid stimulating hormone receptor3003
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 24004
cytochrome P450 2C19 precursor1001
chromobox protein homolog 12002
flap endonuclease 12002
DNA polymerase iota isoform a (long)1001
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)2002
Cytochrome P450 3A40001
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0102
Nitric oxide synthase, brain 0102
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30101
ATP-dependent phosphofructokinase3003
Chain A, Avidin0011
Chain A, Protein (streptavidin)0011
Chain B, Protein (streptavidin)0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin Complex With Biotin0011
Chain D, Circularly Permuted Core-streptavidin E51/a460011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Avidin0011
Chain A, Streptavidin0011
Chain B, Streptavidin0011
Chain A, Streptavidin0011
Chain B, Streptavidin0011
Chain A, JmjC domain-containing histone demethylation protein 3A1001
RAR-related orphan receptor gamma3003
apical membrane antigen 1, AMA12002
nonstructural protein 10101
estrogen nuclear receptor alpha5005
green fluorescent protein, partial0101
vitamin D3 receptor isoform VDRA3003
insulin-degrading enzyme isoform 10011
Streptavidin0011
Receptor-type tyrosine-protein phosphatase beta0001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, Ferritin light chain1001
Chain A, Cruzipain1001
Luciferase1001
interleukin 81001
15-lipoxygenase, partial2002
USP1 protein, partial3003
Microtubule-associated protein tau1001
AR protein3003
aldehyde dehydrogenase 1 family, member A12002
glucocorticoid receptor [Homo sapiens]3003
retinoid X nuclear receptor alpha2002
farnesoid X nuclear receptor3003
pregnane X nuclear receptor4004
peroxisome proliferator-activated receptor delta2002
peroxisome proliferator activated receptor gamma3003
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
thyroid hormone receptor beta isoform a4004
nuclear factor erythroid 2-related factor 2 isoform 13003
nuclear receptor ROR-gamma isoform 11001
geminin5005
DNA polymerase kappa isoform 11001
survival motor neuron protein isoform d2002
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1012
Cellular tumor antigen p534004
60 kDa chaperonin0101
60 kDa heat shock protein, mitochondrial0101
Vitamin D3 receptor0114
Gamma-aminobutyric acid receptor subunit beta-11012
Gamma-aminobutyric acid receptor subunit delta1012
Gamma-aminobutyric acid receptor subunit gamma-21012
Gamma-aminobutyric acid receptor subunit alpha-51012
Gamma-aminobutyric acid receptor subunit alpha-31012
Glycine receptor subunit alpha-10011
Gamma-aminobutyric acid receptor subunit gamma-11012
Gamma-aminobutyric acid receptor subunit alpha-21012
Gamma-aminobutyric acid receptor subunit alpha-41012
Gamma-aminobutyric acid receptor subunit gamma-31012
Gamma-aminobutyric acid receptor subunit alpha-61012
Vitamin D3 receptor0011
Nuclear receptor ROR-gamma1001
10 kDa heat shock protein, mitochondrial0101
Gamma-aminobutyric acid receptor subunit alpha-11012
Gamma-aminobutyric acid receptor subunit beta-31012
Gamma-aminobutyric acid receptor subunit beta-21012
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
GABA theta subunit1012
Gamma-aminobutyric acid receptor subunit epsilon1012
N(G),N(G)-dimethylarginine dimethylaminohydrolase 10101
General amino-acid permease GAP10001
Chain A, Glutamine Binding Protein0011
arylsulfatase A1001
Bloom syndrome protein isoform 11001
peripheral myelin protein 22 isoform 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor2002
Carbonic anhydrase 10001
Carbonic anhydrase 20001
Neutral amino acid transporter A0101
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0101
Carbonic anhydrase-like protein, putative0001
Amino acid transporter0101
TDP1 protein3003
EWS/FLI fusion protein1001
Thioredoxin reductase 0101
Histone H2A.x2002
mitogen-activated protein kinase 11001
muscleblind-like protein 1 isoform 12002
lamin isoform A-delta103003
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Flavodoxin0001
Voltage-dependent L-type calcium channel subunit alpha-1F0101
Bile salt export pump0303
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
TAR DNA-binding protein 432002
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Lanosterol 14-alpha demethylase0101
Canalicular multispecific organic anion transporter 10202
cytochrome P450 2D61001
transcriptional regulator ERG isoform 31001
peripheral myelin protein 222002
histone acetyltransferase KAT2A isoform 11001
Inositol monophosphatase 11001
Chain A, Mineralocorticoid receptor0101
Chain A, Mineralocorticoid receptor0101
glp-1 receptor, partial2002
pregnane X receptor1001
SMAD family member 21001
SMAD family member 31001
GLI family zinc finger 31001
Smad31001
estrogen receptor 2 (ER beta)1001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor2002
retinoic acid nuclear receptor alpha variant 11001
estrogen-related nuclear receptor alpha2002
67.9K protein1001
IDH11001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a2002
activating transcription factor 61001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
thyroid hormone receptor beta isoform 22002
Vpr1001
Voltage-dependent calcium channel gamma-2 subunit1001
Estrogen receptor0213
Glucocorticoid receptor0213
Progesterone receptor0213
Glycine receptor subunit alpha-10202
ATP-dependent translocase ABCB10101
Mineralocorticoid receptor 0203
Androgen receptor0314
Androgen receptor0203
Glutamate receptor 21001
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Sodium-dependent serotonin transporter0101
Cytochrome P450 2C190101
Spike glycoprotein1001
Estrogen receptor beta0112
Multidrug and toxin extrusion protein 10101
ATPase family AAA domain-containing protein 51001
Ataxin-21001
Chain X, Thyroid hormone receptor beta-10011
Chain X, Thyroid hormone receptor beta-10011
cytochrome P450 family 3 subfamily A polypeptide 41001
glucocerebrosidase1001
aryl hydrocarbon receptor1001
neuropeptide S receptor isoform A1001
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit delta0101
Solute carrier organic anion transporter family member 1A40102
Solute carrier organic anion transporter family member 1A50001
Prothrombin0011
Transthyretin0001
Thyroid hormone receptor alpha0224
Thyroid hormone receptor beta0224
Proliferating cell nuclear antigen0101
Gamma-aminobutyric acid receptor subunit alpha-10101
Thyroid hormone receptor beta0101
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit beta-30101
Adenosine receptor A10202
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit alpha-30101
Peroxisome proliferator-activated receptor gamma0022
Solute carrier organic anion transporter family member 1A20001
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Solute carrier organic anion transporter family member 1A30001
Gamma-aminobutyric acid receptor subunit epsilon0101
Gamma-aminobutyric acid receptor subunit alpha-60101
Sigma non-opioid intracellular receptor 10011
Solute carrier organic anion transporter family member 4C10001
Solute carrier organic anion transporter family member 4C10001
Gamma-aminobutyric acid receptor subunit gamma-10101
Solute carrier organic anion transporter family member 4A10001
Gamma-aminobutyric acid receptor subunit gamma-30101
Solute carrier organic anion transporter family member 1C10101
Solute carrier organic anion transporter family member 1B30001
Gamma-aminobutyric acid receptor subunit theta0101
Solute carrier organic anion transporter family member 1B10001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]