MCID: END059
MIFTS: 32

Endocrine-Cerebroosteodysplasia

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Endocrine-Cerebroosteodysplasia

MalaCards integrated aliases for Endocrine-Cerebroosteodysplasia:

Name: Endocrine-Cerebroosteodysplasia 57 75 29 13 6 40 73
Endocrine-Cerebro-Osteodysplasia Syndrome 12 59 37 15
Eco Syndrome 12 59
Eco 57 75

Characteristics:

Orphanet epidemiological data:

59
endocrine-cerebro-osteodysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or as neonate


HPO:

32
endocrine-cerebroosteodysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Endocrine-Cerebroosteodysplasia

Disease Ontology : 12 A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has material basis in mutation in the gene encoding intestinal cell kinase (ICK).

MalaCards based summary : Endocrine-Cerebroosteodysplasia, also known as endocrine-cerebro-osteodysplasia syndrome, is related to chagas disease and malaria. An important gene associated with Endocrine-Cerebroosteodysplasia is ICK (Intestinal Cell Kinase). Affiliated tissues include pituitary, adrenal gland and bone, and related phenotypes are cryptorchidism and scrotal hypoplasia

UniProtKB/Swiss-Prot : 75 Endocrine-cerebroosteodysplasia: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.

Description from OMIM: 612651

Related Diseases for Endocrine-Cerebroosteodysplasia

Diseases related to Endocrine-Cerebroosteodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 chagas disease 10.0
2 malaria 10.0
3 japanese encephalitis 9.9
4 leishmaniasis 9.9
5 encephalitis 9.9
6 cutaneous leishmaniasis 9.8
7 dengue disease 9.8
8 tularemia 9.8
9 multiple sclerosis 9.7
10 motion sickness 9.7
11 anorexia nervosa 9.7
12 dengue virus 9.7
13 filariasis 9.7
14 spotted fever 9.7
15 rabies 9.7
16 hypertrophic cardiomyopathy 9.7
17 filarial elephantiasis 9.7
18 paracoccidioidomycosis 9.7
19 campylobacteriosis 9.7
20 cystic echinococcosis 9.7
21 echinococcosis 9.7
22 impotence 9.7
23 leptospirosis 9.7
24 synovitis 9.7
25 testicular cancer 9.7
26 rosacea 9.7
27 tinea nigra 9.7
28 dermatophytosis 9.7
29 mucocutaneous leishmaniasis 9.7
30 eaf 9.7

Graphical network of the top 20 diseases related to Endocrine-Cerebroosteodysplasia:



Diseases related to Endocrine-Cerebroosteodysplasia

Symptoms & Phenotypes for Endocrine-Cerebroosteodysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Nose:
wide nasal bridge
flattened nasal tip

Head And Neck Face:
micrognathia
midface hypoplasia

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
ambiguous genitalia
hypoplastic scrotum
microphallus

Chest Breasts:
widely spaced nipples

Chest External Features:
broad chest

Genitourinary:
unfused urogenital folds

Skeletal Pelvis:
hip abduction

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
holoprosencephaly
pituitary agenesis
hypoplastic or absent corpus callosum
more
Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Limbs:
micromelia
shortened upper limbs
bowing of the forearms
widened proximal metaphyses of the femur and tibia

Skeletal Hands:
brachydactyly
syndactyly
postaxial polydactyly
ulnar deviation of the hands

Endocrine Features:
hypoplastic adrenal glands
hypoplastic pituitary gland

Head And Neck Eyes:
fused eyelids
small, sunken eyes

Genitourinary Kidneys:
dilated cystic tubules

Skeletal Feet:
sandal gap between first and second toes


Clinical features from OMIM:

612651

Human phenotypes related to Endocrine-Cerebroosteodysplasia:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 scrotal hypoplasia 32 HP:0000046
3 hypospadias 32 HP:0000047
4 micropenis 32 HP:0000054
5 ambiguous genitalia 32 HP:0000062
6 cleft palate 32 HP:0000175
7 cleft upper lip 32 HP:0000204
8 hydrocephalus 32 HP:0000238
9 malar flattening 32 HP:0000272
10 micrognathia 32 HP:0000347
11 low-set ears 32 HP:0000369
12 abnormality of the pinna 32 HP:0000377
13 wide nasal bridge 32 HP:0000431
14 depressed nasal tip 32 HP:0000437
15 adrenal hypoplasia 32 HP:0000835
16 shield chest 32 HP:0000914
17 brachydactyly 32 HP:0001156
18 syndactyly 32 HP:0001159
19 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193
20 holoprosencephaly 32 HP:0001360
21 barrel-shaped chest 32 HP:0001552
22 sandal gap 32 HP:0001852
23 ventriculomegaly 32 HP:0002119
24 micromelia 32 HP:0002983
25 wide intermamillary distance 32 HP:0006610
26 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
27 ulnar deviation of the hand 32 HP:0009487
28 polydactyly 32 HP:0010442
29 midface retrusion 32 HP:0011800
30 microphallus 32 HP:0030260
31 postaxial polydactyly 32 HP:0100259

MGI Mouse Phenotypes related to Endocrine-Cerebroosteodysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 ICK SHH
2 limbs/digits/tail MP:0005371 8.62 ICK SHH

Drugs & Therapeutics for Endocrine-Cerebroosteodysplasia

Search Clinical Trials , NIH Clinical Center for Endocrine-Cerebroosteodysplasia

Genetic Tests for Endocrine-Cerebroosteodysplasia

Genetic tests related to Endocrine-Cerebroosteodysplasia:

# Genetic test Affiliating Genes
1 Endocrine-Cerebroosteodysplasia 29 ICK

Anatomical Context for Endocrine-Cerebroosteodysplasia

MalaCards organs/tissues related to Endocrine-Cerebroosteodysplasia:

41
Pituitary, Adrenal Gland, Bone, Eye

Publications for Endocrine-Cerebroosteodysplasia

Articles related to Endocrine-Cerebroosteodysplasia:

# Title Authors Year
1
Intestinal cell kinase, a protein associated with endocrine-cerebro- osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. ( 24853502 )
2014

Variations for Endocrine-Cerebroosteodysplasia

UniProtKB/Swiss-Prot genetic disease variations for Endocrine-Cerebroosteodysplasia:

75
# Symbol AA change Variation ID SNP ID
1 ICK p.Arg272Gln VAR_057994 rs118203918

ClinVar genetic disease variations for Endocrine-Cerebroosteodysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ICK NM_016513.4(ICK): c.815G> A (p.Arg272Gln) single nucleotide variant Pathogenic rs118203918 GRCh37 Chromosome 6, 52880897: 52880897
2 ICK NM_016513.4(ICK): c.815G> A (p.Arg272Gln) single nucleotide variant Pathogenic rs118203918 GRCh38 Chromosome 6, 53016099: 53016099

Expression for Endocrine-Cerebroosteodysplasia

Search GEO for disease gene expression data for Endocrine-Cerebroosteodysplasia.

Pathways for Endocrine-Cerebroosteodysplasia

GO Terms for Endocrine-Cerebroosteodysplasia

Biological processes related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 8.62 ICK SHH

Sources for Endocrine-Cerebroosteodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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