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:
expandAlopecia (D000505)
Parent Node:
expandCutis Laxa (D003483)
Parent Node:
expandMegalencephaly (D058627)
Parent Node:
expandScoliosis (D012600)
..Starting node
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)

       Child Nodes:



 Sister Nodes: 
..expandAcrodysplasia scoliosis (C538180)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCoffin syndrome 1 (C536435)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandGaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..expandIida Kannari syndrome (C536284)
..expandKyphoscoliosis 1 (C565711)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandParastremmatic dwarfism (C537172)
..expandPilotto syndrome (C537400)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRigid spine syndrome (C535683)
..expandScoliosis, Arachnodactyly, And Blindness (C567309)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..expandShprintzen omphalocele syndrome (C537329)
..expandSpondylocarpotarsal synostosis (C535780)
..expandTsukahara Syndrome (C566376)
..expandWaaler Aarskog syndrome (C536461)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6655
Name:Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Definition:
Alternative IDs:OMIM:613075
ParentIDs:MESH:D000505|MESH:D003483|MESH:D012600|MESH:D058627
TreeNumbers:C05.116.900.800.875/C567770 |C05.660.207.536/C567770 |C10.500.507.400.249/C567770 |C16.131.621.207.532/C567770 |C16.131.666.507.400.249/C567770 |C16.320.850.180/C567770 |C17.300.230/C567770 |C17.800.329.937.122/C567770 |C17.800.827.180/C567770 |C23.300.035/C56777
Synonyms:MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS |MACS Syndrome |TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Slim Mappings:Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C567770
MeSH: C567770
OMIM: 613075;

Genes: RIN2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000766Abnormal sternum morphology
3 HP:0001596Alopecia
4 HP:0001156BrachydactylyHP:0040283
5 HP:0002110BronchiectasisHP:0040283
6 HP:0000978Bruising susceptibility
7 HP:0000280Coarse facial features
8 HP:0000028CryptorchidismHP:0040283
9 HP:0000973Cutis laxa
10 HP:0004325Decreased body weight
11 HP:0000494Downslanted palpebral fissures
12 HP:0012472Eclabion
13 HP:0000212Gingival overgrowth
14 HP:0000218High palateHP:0040283
15 HP:0001620High pitched voice
16 HP:0000974Hyperextensible skin
17 HP:0000815Hypergonadotropic hypogonadismHP:0040283
18 HP:0001252Hypotonia
19 HP:0008064IchthyosisHP:0040283
20 HP:0040079Irregular dentition
21 HP:0001382Joint hypermobility
22 HP:0000939OsteoporosisHP:0040283
23 HP:0100540Palpebral edema
24 HP:0001763Pes planus
25 HP:0003010Prolonged bleeding time
26 HP:0002650Scoliosis
27 HP:0004322Short stature
28 HP:0000954Single transverse palmar creaseHP:0040283
29 HP:0000535Sparse and thin eyebrow
30 HP:0008070Sparse hair
31 HP:0000179Thick lower lip vermilion
32 HP:0001537Umbilical herniaHP:0040283
33 HP:0008661Urethral stenosisHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_018993.3(RIN2):c.1731delC (p.Ile578Serfs)54453RIN2Pathogenic869320663RCV000001359; NMedGen:C2751321,OMIM:613075,ORPHA:217335201995640019956400NM_018993.3:c.1731delCNP_061866.1:p.Ile578SerfsNC_000020.10:g.19956400delCOMIM Allelic Variant:610222.0001C2751321 613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
NM_018993.3(RIN2):c.1914_1915delGC (p.Glu638Aspfs)54453RIN2Pathogenic587776915RCV000030606; NMedGen:C2751321,OMIM:613075,ORPHA:217335201997080119970802NM_018993.3:c.1914_1915delGCNP_061866.1:p.Glu638AspfsOMIM Allelic Variant:610222.0002C2751321 613075 Macrocephaly, alopecia, cutis laxa, and scoliosis