Gene Summary

Name:
membrane associated ring-CH-type finger 6
Synonyms:
March6,  F830029L24Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased airway resistance Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 4.40×10-33
increased fasting circulating glucose level Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 7.40×10-13
decreased prepulse inhibition Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 4.47×10-08
abnormal testis morphology Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased body weight Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 3.67×10-08
increased freezing behavior Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 1.02×10-05
impaired glucose tolerance Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 6.73×10-05
abnormal snout morphology Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 2.18×10-05
decreased exploration in new environment Marchf6tm1b(EUCOMM)Hmgu HOM   Early adult 4.23×10-14
hyperactivity Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 4.51×10-05
decreased lung elastance Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 5.57×10-05
decreased grip strength Marchf6tm1b(EUCOMM)Hmgu HOM   Early adult 2.06×10-06
small testis Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased mean platelet volume Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 3.46×10-08
short tibia Marchf6tm1b(EUCOMM)Hmgu HOM Early adult 7.70×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Parotid gland N/A heterozygote Not available
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote Not available
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote Not available
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

344 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

20 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Marchf6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Marchf6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Adult Familial Myoclonic Epilepsy
ORPHA:86814
Epilepsy, Familial Adult Myoclonic, 3
OMIM:613608

The table below shows human diseases predicted to be associated to Marchf6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Wolfram-Like Syndrome
Diabetes mellitus, Respiratory insufficiency, Depression, Glucose intolerance, Primary gonadal in... ORPHA:411590
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Small scrotum, Hypospadias, Hypoglycemia, Small for gestatio... OMIM:607143
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Impaired ADP-induced platelet aggregation, Macrothrombocyt... OMIM:155100
Thrombocytopenia 1
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent pneumonia, Decreased mean platelet volume, Lymphocytosis, Failure to thrive, Thrombocyt... OMIM:617718
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un... OMIM:169400
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly OMIM:300484
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Hyperlysinemia, Type I
Cognitive impairment, Short attention span, Hyperactivity, Anemia OMIM:238700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopen... OMIM:231200
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... OMIM:614613
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchidism, Failure to thrive,... OMIM:604317
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Wide nasal bridge, Fibular hypoplasia, Talipes e... OMIM:201170
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Failure to thrive in infancy, Rhizomelia, Micrognathia, Broad femoral neck, Cryptorc... OMIM:611209
Stuve-Wiedemann Syndrome 1
Apnea, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short ... OMIM:601559
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fib... ORPHA:1988
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Tapered finger, Aggressive behavior, Long fingers, Clin... OMIM:609425
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Failure to thrive OMIM:618362
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Elevat... OMIM:305400
Slc35A2-Cdg
Failure to thrive in infancy, Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus... ORPHA:356961
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes planus, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Cryptorchidism, Small ha... OMIM:300354
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Cogniti... ORPHA:369873
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa... OMIM:153670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Usmani-Riazuddin Syndrome, Autosomal Dominant
Pes planus, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious be... OMIM:619467
Takenouchi-Kosaki Syndrome
Hypospadias, Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Tapere... OMIM:616737
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Upper airway obstruction, Wide nasal bridge, Pa... OMIM:603671
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Preaxial han... OMIM:175700
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Small for gestational a... OMIM:123450
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Cognitive impairment OMIM:613909
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia OMIM:258865
Bardet-Biedl Syndrome 9
Syndactyly, Polydipsia, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation... OMIM:615986
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Micrognathia, Insul... ORPHA:73272
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,... ORPHA:485405
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Shor... OMIM:620306
Perry Syndrome
Hypoventilation, Central hypoventilation, Frontotemporal dementia, Respiratory insufficiency, Wei... OMIM:168605
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Orofaciodigital Syndrome Type 2
Finger syndactyly, Apnea, Broad hallux, Micrognathia, Short tibia, Tachypnea, Adactyly, Wide nasa... ORPHA:2751
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal f... ORPHA:100924
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi... ORPHA:228402
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Chromosome Xq13 Duplication Syndrome
Pes planus, Hyperactivity, Autoimmune thrombocytopenia, Metatarsus adductus, Aggressive behavior,... OMIM:301069
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Glucose i... OMIM:235200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Intermittent hyperventilation, Aggressive behavior, Precocious puberty, Preaxial p... ORPHA:163681
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ... ORPHA:2004
Microphthalmia With Limb Anomalies
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ... OMIM:206920
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Large for gestational age, Micrognathia, Tibial bowing, Hypoplastic ... ORPHA:96334
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia OMIM:616176
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... ORPHA:3344
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Hyperactivity, Self-biting, Recurrent hand flapping, Me... OMIM:300624
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose, Hyperactivity, Impulsivity OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Hypothyroidism, Sh... OMIM:600430
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Small for gestati... ORPHA:96182
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 45
Pes planus, Hyperactivity, Arachnodactyly, Slender build, Attention deficit hyperactivity disorde... OMIM:617600
Lathosterolosis
Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Micrognathi... OMIM:607330
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Self-... ORPHA:3306
Bernard-Soulier Syndrome
Spontaneous, recurrent epistaxis, Asthma, Decreased platelet glycoprotein Ib-IX-V, Giant platelet... ORPHA:274
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Myotonic Dystrophy 1
Respiratory distress, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testic... OMIM:160900
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... OMIM:618858
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Uterus ... OMIM:164745
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... OMIM:620242
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Diminished ability to concentrate, Recurrent hand... OMIM:615516
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Pes planus, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Short attention span, Aggressive b... ORPHA:449291
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia... ORPHA:239
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Pes cavus, Hypogonadot... OMIM:308750
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... OMIM:606176
19P13.3 Microduplication Syndrome
Hyperactivity, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Long fingers, Hip dis... ORPHA:447980
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Brachydactyly, Hyperactivity, Micrognathia, Aggressive behavior, Cryptorchidism, Sh... OMIM:300534
Trichohepatoenteric Syndrome 1
Hypospadias, Small for gestational age, Increased mean platelet volume, Avascular necrosis of the... OMIM:222470
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... ORPHA:2298
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... OMIM:227270
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Micrognathia, Postaxial polydactyly, Preaxial polydactyly, Ut... OMIM:617925
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Hypospadias, Abnormal finger flexion... OMIM:210600
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Obesity, Hip dysplasia, Camptodactyly, Failure to thrive, Self-mut... ORPHA:412035
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, 2-3 toe syndactyly, Irritabi... ORPHA:391307
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping ... ORPHA:85293
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Amelia, Testicular atrophy OMIM:601163
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, I... ORPHA:525731
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Insulin-Like Growth Factor I Deficiency
Short attention span, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circu... OMIM:608747
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Abnorm... ORPHA:487796
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Long nose, Cryptorchidism, Microphallus, Low frustration tolerance,... OMIM:300486
Adnp Syndrome
Respiratory distress, Broad hallux, Sandal gap, Oral-pharyngeal dysphagia, Abnormal toe morpholog... ORPHA:404448
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Dementia, Adrena... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Micrognathia, Long nose, ... OMIM:309520
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Stankiewicz-Isidor Syndrome
Hyperactivity, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, 2-3 toe synd... OMIM:617516
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Upper airway obstruction, Patellar hypoplasia, Tal... ORPHA:1827
Syndromic Diarrhea
Small for gestational age, Increased mean platelet volume, Splenomegaly, Wide nasal bridge, Hypop... ORPHA:84064
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Hypothyroid... OMIM:618922
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Agitation, Cognitive impairment, Dysphagia, Aspiration ORPHA:2148
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Dementia, Dysphagia, Aspiration, Distal lower l... OMIM:606070
Spinocerebellar Ataxia Type 8
Aspiration, Impotence, Depression, Dysphagia ORPHA:98760
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Abnormality of the calf musculature, Dementia, ... ORPHA:600
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Leukocytosis, Tachypnea, Weight loss, Agitation, Oral aversion, Cough, Th... ORPHA:134
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Esophageal Atresia
Respiratory distress, Abnormal external genitalia, Small for gestational age, Maternal diabetes, ... ORPHA:1199
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... ORPHA:2879
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Alternating Hemiplegia Of Childhood
Respiratory distress, Skewfoot, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, ... ORPHA:2131
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Rett Syndrome, Congenital Variant
Pes planus, Tongue thrusting, Irritability, Talipes equinovarus, Bruxism, Aspiration, Abnormal re... OMIM:613454
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Tracheomalacia, Mic... ORPHA:140
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Hypospadias, ... ORPHA:209905
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Opitz Gbbb Syndrome
Hypospadias, Cryptorchidism, Wide nasal bridge, Dysphagia, Aspiration, Micropenis OMIM:300000
Ogden Syndrome
Congenital hip dislocation, Apnea, Maternal diabetes, Micrognathia, Iron deficiency anemia, Clino... OMIM:300855
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia OMIM:218550
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hip dislocation, Self-injurious behavior, Dysphagia, Testicular atrophy, Po... OMIM:300322
Campomelic Dysplasia
Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio... OMIM:114290
Developmental And Epileptic Encephalopathy 38
Aspiration, Irritability OMIM:617020
Pontine Tegmental Cap Dysplasia
Ankle clonus, Aspiration, Failure to thrive, Dysphagia OMIM:614688
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Aplasia/Hypoplasia of the ribs, Hyperactivity, Short attention span, R... ORPHA:319182
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... ORPHA:258
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Compulsive behaviors, Aspiration, Abnormal repetitive mannerisms, Syndactyly, Hyper... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Compulsive behaviors, Aspiration, Abnormal repetitive mannerisms, Syndactyly, Hyper... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Tay-Sachs Disease
Psychomotor deterioration, Aspiration, Dementia OMIM:272800
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Apnea, Overlapping fingers, Hyperglycemia, Pa... OMIM:609069
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Halperin-Birk Syndrome
Micrognathia, Hip dislocation, Pseudobulbar paralysis, Talipes equinovarus, Aspiration, Failure t... OMIM:618651
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Aplasia/Hypopla... ORPHA:2753
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Hypospadias, Broad hallux, C... ORPHA:353281
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hyperekplexia 1
Aspiration, Apnea, Hip dislocation OMIM:149400
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin... OMIM:200980
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo... OMIM:208500
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial h... OMIM:236680
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Sho... ORPHA:3404
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Tibial Hemimelia
Absent tibia OMIM:275220
Cleft Larynx, Posterior
Aspiration OMIM:215800
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alpha granules, Im... OMIM:187900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Apnea, Decreased response to growth hormone stimulation ... OMIM:619503
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Gm2-Gangliosidosis, Ab Variant
Aspiration, Dementia OMIM:272750
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ... OMIM:619297
Developmental And Epileptic Encephalopathy 100
Micrognathia, Bilateral camptodactyly, Small hand, Dysphagia, Aspiration, Abnormal repetitive man... OMIM:619777
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Talipes equinovarus, Asp... OMIM:618733
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Stridor, Talipes equinovarus, Hand clenching, Aspiration OMIM:614653
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Asthma, Small h... ORPHA:444077
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Apnea, Arachnodactyly, Micrognathia, Osteopathia striata, Wide nasal ... OMIM:300373
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Apnea, Micrognathia, Pseudobulbar paralysis, Dysphagia, Aspiration ORPHA:98889
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Cryptorchidism, Slender toe, Abnormality of the Leydig cel... ORPHA:3063
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Benign Adult Familial Myoclonic Epilepsy
ORPHA:86814
Epilepsy, Familial Adult Myoclonic, 3
OMIM:613608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Marchf6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Marchf6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Marchf6 E3 ubiquitin ligase critically regulates endoplasmic reticulum stress, ferroptosis, and metabolic homeostasis in POMC neurons. Cell reports (July 2023) Marchf6tm1c(EUCOMM)Hmgu 37421621

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Marchf6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Marchf6tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Marchf6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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