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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Polydactyly (D017689)
..Starting node ..Short Rib-Polydactyly Syndrome (D012779)
Child Nodes:
........Short rib-polydactyly syndrome, Beemer type (C537599)
........Short rib-polydactyly syndrome, Verma-Naumoff type (C537602) 1
Sister Nodes:
..Absence of tibia with polydactyly (C535564)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Crossed Polydactyly, Type I (C566783)
..Dandy Walker malformation postaxial polydactyly (C535771)
..Desbuquois syndrome (C535943)
..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..Garret Tripp syndrome (C535646)
..Hirschsprung disease polydactyly heart disease (C538120)
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Holoprosencephaly 9 (C563659)
..Hydrolethalus Syndrome 1 (C565504)
..Kozlowski-Krajewska syndrome (C537615)
..Laurence Prosser Rocker syndrome (C537882)
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Maroteaux Fonfria syndrome (C536023)
..McKusick Kaufman syndrome (C538159)
..Meckel Syndrome, Type 4 (C567003)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Mexican Cardiomelic Dysplasia (C563087)
..Oliver Syndrome (C564931)
..Pallister-Hall Syndrome (D054975)
..Pfeiffer Mayer syndrome (C537888)
..Polydactyly myopia syndrome (C536331)
..Polydactyly preaxial type 1 (C536332)
..Polydactyly, Postaxial (C562429)
..Polydactyly, Postaxial, Type A2 (C566585)
..Polydactyly, Postaxial, Type A3 (C564590)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Polydactyly, preaxial 4 (C536333)
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..Polydactyly, Preaxial III (C566784)
..Polysyndactyly, Crossed (C566773)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Preaxial Hallucal Polydactyly (C566632)
..Pseudotrisomy 13 syndrome (C535829)
..Santos Mateus Leal syndrome (C537235)
..Santos Syndrome (C567819)
..Scalp defects postaxial polydactyly (C536622)
..Short Rib-Polydactyly Syndrome (D012779) 3
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Syndactyly, Type IV (C566092)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 2 (C564278)
..Synpolydactyly 3 (C565216)
..Synpolydactyly With Foot Anomalies (C566095)
..Thai Symphalangism Syndrome (C564303)
..Tibia absent polydactyly arachnoid cyst (C536918)
..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..Urioste Martinez-Frias syndrome (C536478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10194

Name:

Short Rib-Polydactyly Syndrome

Definition:

A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Alternative IDs:

OMIM:263520

ParentIDs:

MESH:D000015|MESH:D010009|MESH:D017689

TreeNumbers:

C05.116.099.708.857 |C05.660.585.600.750 |C16.131.077.850 |C16.131.621.585.600.750

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: D012779
MeSH: D012779
OMIM: 263520;

Genes: NEK1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000062	Ambiguous genitalia
3	HP:0001631	Atrial septal defect	HP:0040283
4	HP:0000248	Brachycephaly	HP:0040283
5	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283
6	HP:0000175	Cleft palate
7	HP:0010984	Digenic inheritance
8	HP:0006956	Dilation of lateral ventricles	HP:0040283
9	HP:0005766	Disproportionate shortening of the tibia
10	HP:0011802	Hamartoma of tongue
11	HP:0001395	Hepatic fibrosis	HP:0040283
12	HP:0000888	Horizontal ribs
13	HP:0001789	Hydrops fetalis
14	HP:0005349	Hypoplasia of the epiglottis
15	HP:0002566	Intestinal malrotation	HP:0040283
16	HP:0000895	Lateral clavicle hook
17	HP:0000161	Median cleft lip
18	HP:0000171	Microglossia	HP:0040283
19	HP:0000054	Micropenis	HP:0040283
20	HP:0000774	Narrow chest
21	HP:0001302	Pachygyria	HP:0040283
22	HP:0100732	Pancreatic fibrosis	HP:0040283
23	HP:0000113	Polycystic kidney dysplasia
24	HP:0005873	Polysyndactyly of hallux
25	HP:0001162	Postaxial hand polydactyly
26	HP:0005817	Postaxial polysyndactyly of foot
27	HP:0001177	Preaxial hand polydactyly
28	HP:0002089	Pulmonary hypoplasia
29	HP:0000773	Short ribs
30	HP:0006644	Thoracic dysplasia
31	HP:0001629	Ventricular septal defect	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)	4750	NEK1	Likely pathogenic	199947197	RCV000190609;	N	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	4	170345819	170345819	NM_001199397.1:c.3107C>G	NP_001186326.1:p.Ser1036Ter	NC_000004.11:g.170345819G>C	-	C0024507 263520 Short rib-polydactyly syndrome, Majewski type
NM_001199397.1(NEK1):c.869-1G>T	4750	NEK1	Pathogenic	794727032	RCV000174122;	N	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	4	170498231	170498231	NM_001199397.1:c.869-1G>T		NC_000004.11:g.170498231C>A	-	C0024507 263520 Short rib-polydactyly syndrome, Majewski type
NM_001199397.1(NEK1):c.869-2A>G	4750	NEK1	Pathogenic	483352906	RCV000023382;	N	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	4	170498232	170498232	NM_001199397.1:c.869-2A>G		NC_000004.11:g.170498232T>C	OMIM Allelic Variant:604588.0002	C0024507 263520 Short rib-polydactyly syndrome, Majewski type
NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)	4750	NEK1	Pathogenic	431905508	RCV000033162;	N	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	4	170510629	170510629	NM_001199397.1:c.433G>A	NP_001186326.1:p.Gly145Arg	NC_000004.11:g.170510629C>T	OMIM Allelic Variant:604588.0004	C0024507 263520 Short rib-polydactyly syndrome, Majewski type
NM_001199397.1(NEK1):c.379C>T (p.Arg127Ter)	4750	NEK1	Pathogenic	387906890	RCV000023381;	N	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	4	170511894	170511894	NM_001199397.1:c.379C>T	NP_001186326.1:p.Arg127Ter	NC_000004.11:g.170511894G>A	OMIM Allelic Variant:604588.0001	C0024507 263520 Short rib-polydactyly syndrome, Majewski type
NM_001199397.1(NEK1):c.117+1G>A	4750	NEK1	Pathogenic	794727285	RCV000175848;	N	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	4	170523664	170523664	NM_001199397.1:c.117+1G>A		NC_000004.11:g.170523664C>T	-	C0024507 263520 Short rib-polydactyly syndrome, Majewski type