Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDiarrhea, Infantile (D003968)
Parent Node:
expandFacies (D019066)
Parent Node:
expandFetal Growth Retardation (D005317)
Parent Node:
expandHair Diseases (D006201)
..Starting node
..expandTrichohepatoenteric Syndrome (C565627)

       Child Nodes:



 Sister Nodes: 
..expandBamforth syndrome (C537901)
..expandBird headed dwarfism Montreal type (C535448)
..expandBjornstad syndrome (C537633)
..expandCardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..expandCatatrichy (C535346)
..expandCopper deficiency, familial benign (C535468)
..expandCurly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..expandDermoodontodysplasia (C565103)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandFLOTCH syndrome (C537065)
..expandFolliculitis (D005499) Child2
..expandGiedion syndrome (C536820)
..expandHairy palms and soles (C535620)
..expandHirsutism (D006628) Child6
..expandHypertrichosis (D006983) Child27
..expandHypotrichosis (D007039) Child89
..expandKaler Garrity Stern syndrome (C537706)
..expandKatsantoni Papadakou Lagoyanni syndrome (C537012)
..expandKozlowski-Krajewska syndrome (C537615)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandMenkes Kinky Hair Syndrome (D007706) Child1
..expandMonilethrix (D056734) Child1
..expandNaxos disease (C538346)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandPiedra (D010854)
..expandPili annulati (C537187)
..expandPili multigemini (C537188)
..expandPili Torti (C562485)
..expandPili torti developmental delay neurological abnormalities (C537398)
..expandPili torti onychodysplasia (C537399)
..expandPseudofolliculitis Barbae (C563016)
..expandPseudomonilethrix (C562988)
..expandRodrigues blindness (C535865)
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandTrichilemmal Cyst 1 (C566458)
..expandTricho-dento-osseous syndrome (C536549)
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandTrichodysplasia-Xeroderma (C566032)
..expandTrichohepatoenteric Syndrome (C565627)
..expandTrichorhinophalangeal Syndrome, Type III (C566033)
..expandTrichostasis spinulosa (C536558)
..expandTRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..expandUncombable hair syndrome (C536939)
..expandWhite forelock with malformations (C536700)
..expandWOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
..expandWoolly Hair, Autosomal Recessive (C564735)
..expandWoolly hair, congenital (C536745)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11235
Name:Trichohepatoenteric Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D003968|MESH:D005317|MESH:D006201|MESH:D019066
TreeNumbers:C13.703.277.370/C565627 |C16.300.390/C565627 |C17.800.329/C565627 |C23.550.291.812/C565627 |C23.550.393.450/C565627 |C23.888.821.214.500/C565627
Synonyms:Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa |Diarrhea, Syndromic
Slim Mappings:Fetal disease|Pathology (process)|Pregnancy complication|Signs and symptoms|Skin disease
Reference: MedGen: C565627
MeSH: C565627
OMIM: 222470;

Genes: TTC37;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001194Abnormalities of placenta or umbilical cord
3 HP:0011031Abnormality of iron homeostasis
4 HP:0002715Abnormality of the immune system
5 HP:0001732Abnormality of the pancreas
6 HP:0000463Anteverted nares
7 HP:0001659Aortic regurgitationHP:0040283
8 HP:0000193Bifid uvula
9 HP:0002299Brittle hair
10 HP:0001394Cirrhosis
11 HP:0100543Cognitive impairment
12 HP:0002212Curly hair
13 HP:0000457Depressed nasal ridge
14 HP:0000494Downslanted palpebral fissures
15 HP:0001508Failure to thrive
16 HP:0002213Fine hair
17 HP:0002007Frontal bossing
18 HP:0012023Galactosuria
19 HP:0001399Hepatic failure
20 HP:0001395Hepatic fibrosis
21 HP:0002240Hepatomegaly
22 HP:0003235Hypermethioninemia
23 HP:0000316Hypertelorism
24 HP:0003073Hypoalbuminemia
25 HP:0011877Increased mean platelet volumeHP:0040283
26 HP:0002041Intractable diarrhea
27 HP:0001511Intrauterine growth retardation
28 HP:0000952Jaundice
29 HP:0006267Large placenta
30 HP:0000343Long philtrum
31 HP:0000369Low-set ears
32 HP:0008551Microtia
33 HP:0000160Narrow mouth
34 HP:0001561Polyhydramnios
35 HP:0011220Prominent forehead
36 HP:0000520Proptosis
37 HP:0001642Pulmonic stenosisHP:0040283
38 HP:0004734Renal cortical microcysts
39 HP:0004322Short stature
40 HP:0001518Small for gestational age
41 HP:0008070Sparse hair
42 HP:0001636Tetralogy of FallotHP:0040283
43 HP:0001894ThrombocytosisHP:0040283
44 HP:0009886Trichorrhexis nodosa
45 HP:0009891Underdeveloped supraorbital ridges
46 HP:0001629Ventricular septal defectHP:0040283
47 HP:0011473Villous atrophy
48 HP:0000154Wide mouth
49 HP:0000445Wide nose
50 HP:0002224Woolly hair
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_014639.3(TTC37):c.2808G>A (p.Trp936Ter)9652TTC37Pathogenic534237033RCV000176881; NMedGen:C1857276,OMIM:22247059484829394848293NM_014639.3:c.2808G>ANP_055454.1:p.Trp936TerNC_000005.9:g.94848293C>T-C1857276 222470 Trichohepatoenteric syndrome
NM_014639.3(TTC37):c.2251C>T (p.Gln751Ter)9652TTC37Pathogenic387907148RCV000024233; NMedGen:C1857276,OMIM:22247059485289094852890NM_014639.3:c.2251C>TNP_055454.1:p.Gln751TerNC_000005.9:g.94852890G>AOMIM Allelic Variant:614589.0005C1857276 222470 Trichohepatoenteric syndrome
NM_014639.3(TTC37):c.439C>T (p.Gln147Ter)9652TTC37Pathogenic387907147RCV000024232; NMedGen:C1857276,OMIM:22247059487649894876498NM_014639.3:c.439C>TNP_055454.1:p.Gln147TerNC_000005.9:g.94876498G>AOMIM Allelic Variant:614589.0004C1857276 222470 Trichohepatoenteric syndrome