ECO
MCID: END059
MIFTS: 42

Endocrine-Cerebroosteodysplasia (ECO)

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

Aliases & Classifications for Endocrine-Cerebroosteodysplasia

MalaCards integrated aliases for Endocrine-Cerebroosteodysplasia:

Name: Endocrine-Cerebroosteodysplasia 56 73 29 13 6 39 71
Endocrine-Cerebro-Osteodysplasia Syndrome 12 58 36 15
Eco Syndrome 12 58
Eco 56 73

Characteristics:

Orphanet epidemiological data:

58
endocrine-cerebro-osteodysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or as neonate


HPO:

31
endocrine-cerebroosteodysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Endocrine-Cerebroosteodysplasia

KEGG : 36 Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase have been reported in the disease.

MalaCards based summary : Endocrine-Cerebroosteodysplasia, also known as endocrine-cerebro-osteodysplasia syndrome, is related to ciliopathy and polydactyly. An important gene associated with Endocrine-Cerebroosteodysplasia is CILK1 (Ciliogenesis Associated Kinase 1), and among its related pathways/superpathways is Hedgehog signaling pathway (KEGG). Affiliated tissues include kidney, skin and pituitary, and related phenotypes are wide nasal bridge and hydrocephalus

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.

UniProtKB/Swiss-Prot : 73 Endocrine-cerebroosteodysplasia: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.

More information from OMIM: 612651

Related Diseases for Endocrine-Cerebroosteodysplasia

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

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 30.6 KIF7 KIAA0586
2 polydactyly 29.0 KIF7 KIAA0586 EVC CILK1
3 kala-azar 1 10.5
4 leishmaniasis 10.5
5 cleft palate, isolated 10.5
6 chagas disease 10.4
7 cutaneous leishmaniasis 10.4
8 hydrolethalus syndrome 1 10.3
9 hydrocephalus 10.3
10 filariasis 10.3
11 chikungunya 10.3
12 japanese encephalitis 10.3
13 visceral leishmaniasis 10.3
14 mastitis 10.2
15 plague 10.2
16 encephalitis 10.2
17 short-rib thoracic dysplasia 14 with polydactyly 10.2 KIAA0586 EVC
18 short-rib thoracic dysplasia 12 10.2 KIAA0586 EVC
19 malaria 10.2
20 filarial elephantiasis 10.2
21 mucocutaneous leishmaniasis 10.2
22 weyers acrofacial dysostosis 10.1 KIAA0586 EVC
23 schistosoma mansoni infection, susceptibility/ 10.1
24 west nile virus 10.1
25 helix syndrome 10.1
26 dengue disease 10.1
27 schistosomiasis 10.1
28 leptospirosis 10.1
29 orofaciodigital syndrome 10.1 KIAA0586 EVC
30 hair whorl 10.0
31 schopf-schulz-passarge syndrome 10.0
32 paracoccidioidomycosis 10.0
33 klebsiella pneumonia 10.0
34 posttransplant acute limbic encephalitis 10.0
35 rapidly involuting congenital hemangioma 10.0
36 hepatocellular carcinoma 10.0
37 papillomatosis, confluent and reticulated 10.0
38 triiodothyronine receptor auxiliary protein 10.0
39 methane production 10.0
40 cervical cancer 10.0
41 epidemic typhus 10.0
42 lyme disease 10.0
43 relapsing fever 10.0
44 acute cystitis 10.0
45 diarrhea 10.0
46 gonadal dysgenesis 10.0
47 disease of mental health 10.0
48 impotence 10.0
49 cerebral palsy 10.0
50 tularemia 10.0

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



Diseases related to Endocrine-Cerebroosteodysplasia

Symptoms & Phenotypes for Endocrine-Cerebroosteodysplasia

Human phenotypes related to Endocrine-Cerebroosteodysplasia:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 31 HP:0000431
2 hydrocephalus 31 HP:0000238
3 cleft palate 31 HP:0000175
4 cryptorchidism 31 HP:0000028
5 wide intermamillary distance 31 HP:0006610
6 micrognathia 31 HP:0000347
7 low-set ears 31 HP:0000369
8 shield chest 31 HP:0000914
9 brachydactyly 31 HP:0001156
10 sandal gap 31 HP:0001852
11 micropenis 31 HP:0000054
12 cleft upper lip 31 HP:0000204
13 holoprosencephaly 31 HP:0001360
14 ventriculomegaly 31 HP:0002119
15 malar flattening 31 HP:0000272
16 hypospadias 31 HP:0000047
17 narrow chest 31 HP:0000774
18 micromelia 31 HP:0002983
19 midface retrusion 31 HP:0011800
20 ambiguous genitalia 31 HP:0000062
21 abnormal cerebellum morphology 31 HP:0001317
22 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
23 enlarged kidney 31 HP:0000105
24 scrotal hypoplasia 31 HP:0000046
25 depressed nasal tip 31 HP:0000437
26 adrenal hypoplasia 31 HP:0000835
27 abnormality of the pinna 31 HP:0000377
28 natal tooth 31 HP:0000695
29 syndactyly 31 HP:0001159
30 preaxial polydactyly 31 HP:0100258
31 sex reversal 31 HP:0012245
32 barrel-shaped chest 31 HP:0001552
33 postaxial polydactyly 31 HP:0100259
34 hyperechogenic kidneys 31 HP:0004719
35 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
36 microphallus 31 HP:0030260
37 ulnar deviation of the hand 31 HP:0009487

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
wide nasal bridge
flattened nasal tip

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Face:
micrognathia
midface hypoplasia
excess skin below skin

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

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

Chest Breasts:
widely spaced nipples

Endocrine Features:
hypoplastic adrenal glands
hypoplastic pituitary gland

Respiratory Larynx:
hypoplastic or absent epiglottis
hypoplastic or absent larynx

Genitourinary External Genitalia Female:
sex reversal with hypoplastic labial folds

Skeletal Pelvis:
hip abduction

Neurologic Central Nervous System:
hydrocephalus
holoprosencephaly
ventriculomegaly
pituitary agenesis
hypoplastic or absent corpus callosum
more
Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
ambiguous genitalia
microphallus
hypoplastic scrotum

Head And Neck Ears:
low-set ears
dysplastic ears

Chest External Features:
narrow chest
broad chest

Genitourinary Kidneys:
hyperechogenic kidneys
large kidneys
dilated cystic tubules

Head And Neck Teeth:
natal teeth

Head And Neck Eyes:
small, sunken eyes
fused eyelids (in some patients)

Genitourinary:
unfused urogenital folds

Genitourinary Bladder:
squamous metaplasia of bladder (uncommon)

Skeletal Feet:
sandal gap between first and second toes

Clinical features from OMIM:

612651

MGI Mouse Phenotypes related to Endocrine-Cerebroosteodysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 CDK20 CEP19 CILK1 DOK7 EVC KIAA0586
2 craniofacial MP:0005382 9.73 CDK20 CILK1 EVC KIAA0586 KIF7 TGIF1
3 limbs/digits/tail MP:0005371 9.43 CDK20 CILK1 EVC KIAA0586 KIF7 TGIF1
4 skeleton MP:0005390 9.23 CDK20 CEP19 CILK1 DOK7 EVC KIAA0586

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 CILK1

Anatomical Context for Endocrine-Cerebroosteodysplasia

MalaCards organs/tissues related to Endocrine-Cerebroosteodysplasia:

40
Kidney, Skin, Pituitary, Eye, Bone, Cerebellum, Adrenal Gland

Publications for Endocrine-Cerebroosteodysplasia

Articles related to Endocrine-Cerebroosteodysplasia:

# Title Authors PMID Year
1
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. 56 6 61
27069622 2016
2
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. 6 56
19185282 2009
3
Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome. 61
31662288 2019
4
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. 61
29635032 2018
5
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. 61
24853502 2014

Variations for Endocrine-Cerebroosteodysplasia

ClinVar genetic disease variations for Endocrine-Cerebroosteodysplasia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CILK1 NM_014920.4(CILK1):c.358G>T (p.Gly120Cys)SNV Pathogenic 625143 rs1157785470 6:52895863-52895863 6:53031065-53031065
2 CILK1 NM_014920.4(CILK1):c.815G>A (p.Arg272Gln)SNV Pathogenic 640 rs118203918 6:52880897-52880897 6:53016099-53016099

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

73
# Symbol AA change Variation ID SNP ID
1 CILK1 p.Arg272Gln VAR_057994 rs118203918

Expression for Endocrine-Cerebroosteodysplasia

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

Pathways for Endocrine-Cerebroosteodysplasia

Pathways related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.32 KIF7 EVC

GO Terms for Endocrine-Cerebroosteodysplasia

Cellular components related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.77 KIF7 KIAA0586 EVC CILK1 CEP19
2 cell projection GO:0042995 9.61 TMEM80 TMEM218 MOK KIF7 KIAA0586 EVC
3 ciliary basal body GO:0036064 9.55 KIF7 KIAA0586 EVC CILK1 CEP19
4 ciliary tip GO:0097542 9.32 KIF7 CILK1
5 ciliary base GO:0097546 9.26 MOK CILK1
6 cilium GO:0005929 9.23 TMEM80 TMEM218 MOK KIF7 EVC CILK1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of smoothened signaling pathway GO:0045880 9.26 KIF7 EVC
2 neuromuscular junction development GO:0007528 9.16 ZC4H2 DOK7
3 cilium assembly GO:0060271 9.13 KIAA0586 CILK1 CEP19
4 cell projection organization GO:0030030 8.8 KIAA0586 CILK1 CEP19

Molecular functions related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase activity GO:0004693 8.96 MOK CDK20
2 MAP kinase activity GO:0004707 8.62 MOK CILK1

Sources for Endocrine-Cerebroosteodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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