SFM
MCID: SCH078
MIFTS: 60

Schimmelpenning-Feuerstein-Mims Syndrome (SFM)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards integrated aliases for Schimmelpenning-Feuerstein-Mims Syndrome:

Name: Schimmelpenning-Feuerstein-Mims Syndrome 57 75
Nevus Sebaceus of Jadassohn 57 76 53 59 75
Organoid Nevus Phakomatosis 57 53 75 73
Jadassohn Nevus Phakomatosis 57 53 75
Sfm Syndrome 57 53 75
Jnp 57 53 75
Linear Sebaceous Nevus Syndrome 57 75
Schimmelpenning Syndrome 59 75
Solomon Syndrome 59 75
Sfm 57 75
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 57
Schimmelpenning Feuerstein Mims Syndrome 53
Epidermal Nevus Syndrome, Formerly 57
Jadassohn Nevus Phakomatosis; Jnp 57
Sebaceous Nevus Syndrome, Linear 57
Linear Nevus Sebaceous Syndrome 53
Sebaceous Nevus Syndrome Linear 53
Linear Nevus Sebaceus Syndrome 59
Nevus, Sebaceous of Jadassohn 44
Epidermal Nevus Syndrome 75
Nevus Sebaceus Syndrome 59
Organoid Nevus Syndrome 59
Nevus Sebaceous 73
Ss 75

Characteristics:

Orphanet epidemiological data:

59
linear nevus sebaceus syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
somatic mosaicism

Miscellaneous:
onset of skin lesions at birth
extracutaneous manifestations are variable
secondary tumors develop within the skin lesions


HPO:

32
schimmelpenning-feuerstein-mims syndrome:
Inheritance somatic mosaicism sporadic


Classifications:



Summaries for Schimmelpenning-Feuerstein-Mims Syndrome

NIH Rare Diseases : 53 Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS). The nevus usually is located on the face, scalp, or neck. The most common CNS abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). Various other CNS abnormalities have been reported. Other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. LNSS is not inherited (it is sporadic). It can be caused by a somatic mutation in any of several genes. Mutations that cause LNSS occur after fertilization and are only present in some body cells (mosaicism). Treatment is directed towards the specific symptoms in each person.

MalaCards based summary : Schimmelpenning-Feuerstein-Mims Syndrome, also known as nevus sebaceus of jadassohn, is related to nevus, epidermal and apocrine adenoma, and has symptoms including seizures An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Cytokine Signaling in Immune system and CREB Pathway. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and brain, and related phenotypes are frontal bossing and intellectual disability

OMIM : 57 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). (163200)

UniProtKB/Swiss-Prot : 75 Schimmelpenning-Feuerstein-Mims syndrome: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

Wikipedia : 76 Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in... more...

Related Diseases for Schimmelpenning-Feuerstein-Mims Syndrome

Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 287)
# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 31.8 NRAS KRAS HRAS
2 apocrine adenoma 30.3 KRAS HRAS
3 bladder urothelial carcinoma 29.4 NRAS KRAS HRAS
4 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.2
5 neutrophilic dermatosis, acute febrile 12.0
6 mental retardation smith fineman myers type 11.8
7 hemimegalencephaly 11.7
8 sickle cell anemia 11.7
9 inflammatory linear verrucous epidermal nevus 11.5
10 sjogren syndrome 11.4
11 didymosis aplasticosebacea 11.3
12 becker nevus syndrome 11.2
13 mental retardation-hypotonic facies syndrome, x-linked, 1 11.2
14 hemoglobin se disease 11.2
15 fetal hemoglobin quantitative trait locus 5 11.0
16 serotonin syndrome 11.0
17 syringocystadenoma papilliferum 10.6
18 lupus erythematosus 10.5
19 hypophosphatemic rickets, x-linked recessive 10.5
20 rickets 10.5
21 phacomatosis pigmentokeratotica 10.5
22 phakomatosis pigmentokeratotica 10.5
23 atrial standstill 1 10.4
24 systemic lupus erythematosus 10.4
25 apocrine adenocarcinoma 10.4
26 adenoma 10.4
27 heart block, congenital 10.4
28 cutaneous lupus erythematosus 10.2
29 epidermodysplasia verruciformis 10.2
30 basal cell carcinoma 1 10.2
31 squamous cell carcinoma 10.2
32 nodular hidradenoma 10.2
33 basal cell carcinoma 10.2
34 cystadenoma 10.2
35 hidrocystoma 10.2
36 hidradenoma 10.2
37 mucoepidermoid carcinoma 10.2
38 sebaceous adenocarcinoma 10.2
39 spiradenoma 10.2
40 ceruminoma 10.2
41 annular erythema 10.2
42 hemangioma 10.2
43 megalencephaly 10.2
44 disorganization, mouse, homolog of 10.2
45 subacute cutaneous lupus erythematosus 10.2
46 optic nerve hypoplasia, bilateral 10.2
47 connective tissue disease 10.2
48 sickle cell disease 10.1
49 attention deficit-hyperactivity disorder 10.1
50 lennox-gastaut syndrome 10.1

Graphical network of the top 20 diseases related to Schimmelpenning-Feuerstein-Mims Syndrome:



Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome

Symptoms & Phenotypes for Schimmelpenning-Feuerstein-Mims Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
recurrent fractures
bone deformities

Growth Height:
short stature

Cardiovascular Vascular:
coarctation of aorta

Skin Nails Hair Skin:
hemangioma
ichthyosis hystrix
linear nevus sebaceous, often in midfacial area
lesions follow the lines of blaschko
nevus unius lateris
more
Neoplasia:
basal cell carcinoma
syringocystadenoma papilliferum
central giant cell granuloma
trichoblastoma

Head And Neck Eyes:
lid lipodermoid
coloboma of eyelids, iris, and choroid
ophthalmoplegia (in some)
corneal clouding (in some)

Skeletal Hands:
finger abnormalities

Skin Nails Hair Hair:
alopecia within lesion

Laboratory Abnormalities:
phosphaturia (in some)
phosphaturia may disappear after a long period of time

Neurologic Central Nervous System:
seizures
mental retardation
neurologic abnormalities in about 7%
hemimegalencephaly

Genitourinary Kidneys:
horseshoe kidney

Skeletal Spine:
kyphoscoliosis

Head And Neck Head:
cranial asymmetry

Growth Other:
growth retardation
asymmetric overgrowth

Head And Neck Teeth:
pigmented, malformed teeth

Skeletal Feet:
toe abnormalities

Endocrine Features:
hypophosphatemic vitamin d-resistant rickets (in some)
precocious puberty (less common)


Clinical features from OMIM:

163200

Human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
6 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
7 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
8 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
9 cavernous hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001048
10 genu recurvatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002816
11 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
12 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
13 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
14 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
15 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
16 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
17 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
18 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
19 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
20 irregular hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007400
21 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
22 iris coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000612
23 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
24 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
25 adenoma sebaceum 59 32 hallmark (90%) Very frequent (99-80%) HP:0009720
26 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
27 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
28 asymmetric growth 59 32 hallmark (90%) Very frequent (99-80%) HP:0100555
29 precocious puberty 32 occasional (7.5%) HP:0000826
30 osteopenia 32 HP:0000938
31 corneal opacity 32 occasional (7.5%) HP:0007957
32 short stature 32 HP:0004322
33 ichthyosis 32 HP:0008064
34 abnormality of the eye 59 Frequent (79-30%)
35 horseshoe kidney 32 HP:0000085
36 coarctation of aorta 32 HP:0001680
37 ventriculomegaly 59 Very frequent (99-80%)
38 recurrent fractures 32 HP:0002757
39 abnormality of dental morphology 32 HP:0006482
40 abnormality of finger 32 HP:0001167
41 hemihypertrophy 32 HP:0001528
42 ophthalmoplegia 32 occasional (7.5%) HP:0000602
43 kyphoscoliosis 32 HP:0002751
44 abnormality of dental color 32 HP:0011073
45 porencephaly 59 Frequent (79-30%)
46 hypopigmentation of the skin 32 HP:0001010
47 coloboma 32 HP:0000589
48 overgrowth 32 HP:0001548
49 hemangioma 32 HP:0001028
50 cranial asymmetry 32 HP:0000267

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome:


seizures

GenomeRNAi Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.29 HRAS KRAS
2 Decreased viability GR00106-A-0 10.29 KRAS
3 Decreased viability GR00221-A-1 10.29 HRAS KRAS NRAS
4 Decreased viability GR00221-A-2 10.29 HRAS KRAS
5 Decreased viability GR00221-A-3 10.29 HRAS NRAS
6 Decreased viability GR00301-A 10.29 KRAS
7 Decreased viability GR00381-A-1 10.29 KRAS
8 Decreased viability GR00402-S-2 10.29 HRAS KRAS NRAS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.86 NRAS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.86 NRAS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.86 HRAS NRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.86 HRAS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.86 NRAS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.86 HRAS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.86 HRAS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.8 KRAS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.8 KRAS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.8 KRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.8 KRAS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.8 HRAS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.8 HRAS KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.8 KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.8 HRAS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.8 KRAS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.8 KRAS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.8 KRAS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.8 HRAS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.8 KRAS
29 Reduced mammosphere formation GR00396-S 8.8 HRAS KRAS NRAS

MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 HRAS KRAS NRAS
2 neoplasm MP:0002006 9.13 HRAS KRAS NRAS
3 no phenotypic analysis MP:0003012 8.8 HRAS KRAS NRAS

Drugs & Therapeutics for Schimmelpenning-Feuerstein-Mims Syndrome

Drugs for Schimmelpenning-Feuerstein-Mims Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3,Phase 2
2 Antibodies, Monoclonal Phase 3
3 Mitogens Phase 3
4 Antibodies Phase 3,Phase 2
5 Pharmaceutical Solutions Phase 2
6
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
7 Angiotensin I (1-7)
8 Vasodilator Agents
9 Antihypertensive Agents
10 Angiotensinogen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
2 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
3 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2
4 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

Search NIH Clinical Center for Schimmelpenning-Feuerstein-Mims Syndrome

Cochrane evidence based reviews: nevus, sebaceous of jadassohn

Genetic Tests for Schimmelpenning-Feuerstein-Mims Syndrome

Anatomical Context for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome:

41
Bone, Eye, Brain, Heart, Tongue, Skin, Cerebellum

Publications for Schimmelpenning-Feuerstein-Mims Syndrome

Articles related to Schimmelpenning-Feuerstein-Mims Syndrome:

(show top 50) (show all 52)
# Title Authors Year
1
Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome. ( 30129544 )
2018
2
Dermoscopic Analysis of Nevus Sebaceus of Jadassohn: A Study of 13 Cases. ( 28560218 )
2017
3
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? ( 27398198 )
2016
4
Ceruminous adenoma (ceruminoma) arising in a nevus sebaceus of Jadassohn within the external auditory canal of a 3 year-old boy - A case report. ( 26307545 )
2015
5
Schimmelpenning feuerstein-mims syndrome with isolated enlargement of left temporal lobe. ( 24986195 )
2015
6
Nevus Sebaceus of Jadassohn. ( 26229574 )
2015
7
Secondary neoplasms associated with nevus sebaceus of Jadassohn: a study of 707 cases. ( 24268309 )
2014
8
Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome. ( 24353494 )
2013
9
Squamous cell carcinoma, syringocystadenoma papilliferum and apocrine adenoma arising in a nevus sebaceus of Jadassohn. ( 21393932 )
2011
10
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. ( 20949522 )
2010
11
Pedunculated lesion of the scalp with surrounding long, dark hair in a newborn. Nevus sebaceus of Jadassohn with the hair collar sign. ( 21182643 )
2010
12
Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas. ( 19192012 )
2009
13
Parenchymal brain cysts in Schimmelpenning-Feuerstein-Mims syndrome. ( 19439869 )
2009
14
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. ( 18638629 )
2008
15
Images in clinical medicine. Nevus sebaceus of Jadassohn. ( 18450599 )
2008
16
Sebaceous carcinoma arising in nevus sebaceus of Jadassohn: a clinicopathological study of five cases. ( 17519621 )
2007
17
The ameloblastic fibroodontoma of the maxilla: case report of a child with Schimmelpenning-Feuerstein-Mims syndrome/skin-eye-brain-heart syndrome. ( 16487818 )
2006
18
Nevus sebaceus of Jadassohn. ( 17119437 )
2006
19
Nevus sebaceus of Jadassohn revisited with reconstruction options. ( 15689217 )
2005
20
Development of multiple tumours arising in a nevus sebaceus of Jadassohn. ( 16164741 )
2005
21
Ductal carcinoma arising from a syringocystadenoma papilliferum in a nevus sebaceus of Jadassohn. ( 14631190 )
2003
22
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. ( 12835555 )
2003
23
Another view regarding ductal carcinoma arising from a syringocystadenoma papilliferum in a nevus sebaceus of Jadassohn: can a dermal component of syringocystadenoma papilliferum be excluded with certainty? ( 14631191 )
2003
24
The sebaceous nevus as part of the Schimmelpenning-Feuerstein-Mims Syndrome--an obvious phacomatosis first documented in 1927. ( 12859747 )
2003
25
Mucoepidermoid carcinoma arising within nevus sebaceus of Jadassohn. ( 14744092 )
2003
26
Should nevus sebaceus of Jadassohn in children be excised? A study of 757 cases, and literature review. ( 14501324 )
2003
27
Apocrine carcinoma developed in nevus sebaceus of Jadassohn. ( 14693496 )
2003
28
Familial occurrence of nevus sebaceus of Jadassohn: another case of paradominant inheritance? ( 11275801 )
2001
29
The role of androgen receptors in the clinical course of nevus sebaceus of Jadassohn. ( 11406653 )
2001
30
Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn. ( 11044814 )
2000
31
Trichoblastoma is the most common neoplasm developed in nevus sebaceus of Jadassohn: a clinicopathologic study of a series of 155 cases. ( 10770429 )
2000
32
Spiradenoma arising in a nevus sebaceus of Jadassohn: case report and literature review. ( 10535577 )
1999
33
Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn). ( 10571348 )
1999
34
Nevus sebaceus of Jadassohn associated with macro optic discs and conjunctival choristoma. ( 9790644 )
1998
35
Tubular apocrine carcinoma arising in a nevus sebaceus of Jadassohn. ( 9700379 )
1998
36
Syringocystadenoma papilliferum, basal cell carcinoma and trichilemmoma arising from nevus sebaceus of Jadassohn. ( 9188887 )
1997
37
Fibroblast-dependent induction of a murine skin lesion similar to human nevus sebaceus of Jadassohn. ( 9042154 )
1997
38
Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome. ( 9007330 )
1996
39
Linear nevus sebaceus of Jadassohn treated with the carbon dioxide laser. ( 8346119 )
1993
40
Familial nevus sebaceus of Jadassohn: occurrence in three generations. ( 2347973 )
1990
41
Nevus sebaceus of Jadassohn: a rare oral presentation. ( 3477768 )
1987
42
Nevus sebaceus of Jadassohn: the head and neck manifestations. ( 3613788 )
1987
43
Apocrine cystadenoma arising in a nevus sebaceus of Jadassohn. ( 6499539 )
1984
44
Multifocal basal-cell carcinomas in the Nevus sebaceus of Jadassohn. ( 7240547 )
1981
45
Pseudomelanoma in nevus sebaceus of Jadassohn. ( 464614 )
1979
46
Malignant neoplasms associated with nevus sebaceus of Jadassohn. ( 528703 )
1979
47
Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): clinical and radiological study of a case. ( 579439 )
1977
48
Nevus sebaceus of Jadassohn with associated syringocystadenoma papilliferum. ( 4375514 )
1971
49
Nevus sebaceus of Jadassohn. Part of a new neurocutaneous syndrome? ( 4969985 )
1968
50
Nevus sebaceus of Jadassohn. Report of a case with multiple and extensive lesions and an unusual linear distribution. ( 5641331 )
1968

Variations for Schimmelpenning-Feuerstein-Mims Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 HRAS p.Gly13Arg VAR_068817 rs104894228

ClinVar genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
2 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
3 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
4 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
5 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
6 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
7 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
8 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
9 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
10 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
11 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
12 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
13 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
14 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
15 HRAS NM_005343.3(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh38 Chromosome 11, 533874: 533874
16 HRAS NM_005343.3(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh37 Chromosome 11, 533874: 533874

Expression for Schimmelpenning-Feuerstein-Mims Syndrome

Search GEO for disease gene expression data for Schimmelpenning-Feuerstein-Mims Syndrome.

Pathways for Schimmelpenning-Feuerstein-Mims Syndrome

Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 HRAS KRAS NRAS
2
Show member pathways
13.06 HRAS KRAS NRAS
3
Show member pathways
13.06 HRAS KRAS NRAS
4
Show member pathways
13.04 HRAS KRAS NRAS
5
Show member pathways
13.03 HRAS KRAS NRAS
6
Show member pathways
12.96 HRAS KRAS NRAS
7
Show member pathways
12.89 HRAS KRAS NRAS
8
Show member pathways
12.87 HRAS KRAS NRAS
9
Show member pathways
12.86 HRAS KRAS NRAS
10
Show member pathways
12.85 HRAS KRAS NRAS
11
Show member pathways
12.84 HRAS KRAS NRAS
12
Show member pathways
12.84 HRAS KRAS NRAS
13
Show member pathways
12.82 HRAS KRAS NRAS
14
Show member pathways
12.81 HRAS KRAS NRAS
15
Show member pathways
12.76 HRAS KRAS NRAS
16
Show member pathways
12.75 HRAS KRAS NRAS
17
Show member pathways
12.74 HRAS KRAS NRAS
18
Show member pathways
12.74 HRAS KRAS NRAS
19
Show member pathways
12.73 HRAS KRAS NRAS
20
Show member pathways
12.73 HRAS KRAS NRAS
21
Show member pathways
12.72 HRAS KRAS NRAS
22
Show member pathways
12.71 HRAS KRAS NRAS
23
Show member pathways
12.7 HRAS KRAS NRAS
24
Show member pathways
12.69 HRAS KRAS NRAS
25 12.68 HRAS KRAS NRAS
26
Show member pathways
12.67 HRAS KRAS NRAS
27
Show member pathways
12.66 HRAS KRAS NRAS
28
Show member pathways
12.66 HRAS KRAS NRAS
29
Show member pathways
12.63 HRAS KRAS NRAS
30 12.62 HRAS KRAS NRAS
31
Show member pathways
12.62 HRAS KRAS NRAS
32
Show member pathways
12.59 HRAS KRAS NRAS
33
Show member pathways
12.59 HRAS KRAS NRAS
34
Show member pathways
12.59 HRAS KRAS NRAS
35
Show member pathways
12.58 HRAS KRAS NRAS
36
Show member pathways
12.55 HRAS KRAS NRAS
37
Show member pathways
12.54 HRAS KRAS NRAS
38
Show member pathways
12.54 HRAS KRAS NRAS
39 12.51 HRAS KRAS NRAS
40
Show member pathways
12.48 HRAS KRAS NRAS
41
Show member pathways
12.47 HRAS KRAS NRAS
42
Show member pathways
12.47 HRAS KRAS NRAS
43
Show member pathways
12.43 HRAS KRAS NRAS
44
Show member pathways
12.41 HRAS KRAS NRAS
45 12.41 HRAS KRAS NRAS
46
Show member pathways
12.4 HRAS KRAS NRAS
47
Show member pathways
12.38 HRAS KRAS NRAS
48
Show member pathways
12.38 HRAS KRAS NRAS
49
Show member pathways
12.35 HRAS KRAS NRAS
50
Show member pathways
12.34 HRAS KRAS NRAS

GO Terms for Schimmelpenning-Feuerstein-Mims Syndrome

Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.43 HRAS KRAS
2 MAPK cascade GO:0000165 9.43 HRAS KRAS NRAS
3 negative regulation of neuron apoptotic process GO:0043524 9.4 HRAS KRAS
4 positive regulation of MAP kinase activity GO:0043406 9.37 HRAS KRAS
5 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 HRAS KRAS
6 response to isolation stress GO:0035900 9.16 HRAS KRAS
7 Ras protein signal transduction GO:0007265 9.13 HRAS KRAS NRAS
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 8.8 HRAS KRAS NRAS

Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.33 HRAS KRAS NRAS
2 GDP binding GO:0019003 9.26 HRAS KRAS
3 GTP binding GO:0005525 9.13 HRAS KRAS NRAS
4 GTPase activity GO:0003924 8.8 HRAS KRAS NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome

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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