Autoimmunity, and Macroglossia

Diseases related with Autoimmunity and Macroglossia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Macroglossia that can help you solving undiagnosed cases.


Top matches:

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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Other less relevant matches:

Low match MYOSTATIN-RELATED MUSCLE HYPERTROPHY


general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

Low match CANDIDIASIS, FAMILIAL, 8; CANDF8


Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013).For a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (OMIM ).

CANDIDIASIS, FAMILIAL, 8; CANDF8 Is also known as candidiasis, familial chronic mucocutaneous, autosomal recessive

Related symptoms:

  • Macroglossia
  • Inflammatory abnormality of the skin
  • Recurrent skin infections
  • Psoriasiform dermatitis
  • Blepharitis


SOURCES: OMIM MENDELIAN

More info about CANDIDIASIS, FAMILIAL, 8; CANDF8

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Top 5 symptoms//phenotypes associated to Autoimmunity and Macroglossia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability, mild Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Kyphosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Myopia Hydrocele testis Hamartomatous polyposis Seizures Muscle weakness Furrowed tongue Colonic diverticula Angioid streaks of the fundus Intention tremor Micrognathia High palate Pectus excavatum Narrow mouth Immunodeficiency Hypothyroidism Skeletal muscle hypertrophy Hypoplasia of the maxilla Thyroid adenoma Breast carcinoma Gynecomastia Varicocele Goiter Palmoplantar hyperkeratosis Hyperthyroidism Thyroiditis Fibroadenoma of the breast Hashimoto thyroiditis Transitional cell carcinoma of the bladder Skin tags Meningioma Progressive macrocephaly Ovarian cyst Global developmental delay Subcutaneous lipoma Splenomegaly Hypertelorism Macrocephaly Skeletal muscle atrophy Cognitive impairment Pain Hepatomegaly

Rare Symptoms - Less than 30% cases


Hernia Decreased antibody level in blood Delayed speech and language development Diarrhea Motor delay Neurodegeneration Abnormality of the skeletal system Frontal bossing Proximal muscle weakness Myopathy Abnormality of the vasculature Cardiomyopathy Congestive heart failure Abnormality of the cardiovascular system Hypertrichosis Tall stature Generalized hypotonia Increased intracranial pressure Ataxia Dilatation Macrotia Hepatosplenomegaly Short stature Mandibular prognathia Bone cyst Kyphoscoliosis Neoplasm Sensorineural hearing impairment Hydrocephalus Umbilical hernia Recurrent infections Mental deterioration Intestinal polyposis Acanthosis nigricans Hyperlipidemia Generalized lipodystrophy Accelerated skeletal maturation Calf muscle pseudohypertrophy Abnormality of the penis Polycystic ovaries Decreased fertility in females Hyperinsulinemia Congenital generalized lipodystrophy Lipodystrophy Clitoral hypertrophy Insulin resistance Neck flexor weakness Large hands Abnormality of the genital system Angina pectoris Long foot Glioma Oligomenorrhea Restrictive deficit on pulmonary function testing Abnormality of lipid metabolism Muscle fiber atrophy Tip-toe gait Insulin-resistant diabetes mellitus Acute pancreatitis Lipoatrophy Polyphagia High pitched voice Abnormality of the ovary Nephrolithiasis Muscle fiber necrosis Hypertriglyceridemia Mucosal telangiectasiae Trichilemmoma Enlarged cerebellum Left ventricular systolic dysfunction Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Abnormal macrophage morphology Acrokeratosis Pseudopapilledema Increased endomysial connective tissue EMG: myotonic runs EMG: positive sharp waves Colorectal polyposis Endometrial carcinoma EMG: myotonic discharges Follicular thyroid carcinoma Ovarian carcinoma Absent muscle fiber gamma sarcoglycan Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Epidermal acanthosis Intestinal polyp Triangular face Nephropathy Hepatic steatosis Hirsutism Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Right ventricular dilatation Ductal carcinoma in situ Prominent umbilicus Diabetes mellitus Hyperhidrosis Peripheral neuropathy Hypertension Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Decreased serum leptin Psoriasiform dermatitis Insulin-resistant diabetes mellitus at puberty Oral cleft Flexion contracture Externally rotated hips Achalasia Bulbar signs Hypoplastic scapulae Mild global developmental delay Achilles tendon contracture Generalized dystonia Cleft upper lip Micromelia Arrhythmia Small for gestational age Cleft lip High forehead Dystonia Blindness Dysphagia Cleft palate Decreased taste sensation Gastrointestinal carcinoma Glossitis Respiratory insufficiency Elevated serum creatine phosphokinase Peripheral edema EMG: myopathic abnormalities Progressive proximal muscle weakness Upper limb muscle weakness Difficulty running Difficulty climbing stairs Restrictive ventilatory defect Calf muscle hypertrophy Increased variability in muscle fiber diameter Gowers sign Limb-girdle muscular dystrophy Scapular winging Pneumonia Frequent falls Broad-based gait Lumbar hyperlordosis Waddling gait Inability to walk Long face Unsteady gait Muscular dystrophy Hyperlordosis Facial palsy Patchy alopecia Stomach cancer Reduced intrathoracic adipose tissue Onychomycosis Malabsorption Nail dystrophy Weight loss Abdominal pain Alopecia Vomiting Edema Fatigue Anemia Folliculitis Abnormality of skin pigmentation Seborrheic dermatitis Chronic mucocutaneous candidiasis Blepharitis Right ventricular hypertrophy Recurrent skin infections Inflammatory abnormality of the skin Myoclonus Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Paresthesia Tapered finger Protein-losing enteropathy Aplasia/Hypoplasia of the eyebrow Dystrophic fingernails Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Xerostomia Thromboembolism Generalized hyperpigmentation Sparse body hair Colon cancer Hypoplastic toenails Left ventricular failure Clubbing Hypoalbuminemia Hypokalemia Cachexia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Lymphedema Nail dysplasia Anorexia Multiple cafe-au-lait spots Adenoma sebaceum Psychosis Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Narrow palate Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Otitis media Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Low anterior hairline Recurrent bacterial infections Thick eyebrow Thickened calvaria Reduced ejection fraction Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Widely spaced teeth Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Highly arched eyebrow Retinal degeneration Spondylolisthesis Gait disturbance Cerebral atrophy Malar flattening Behavioral abnormality Abnormality of the dentition Cerebellar atrophy Intellectual disability, severe Short neck Ventriculomegaly Talipes equinovarus Optic atrophy Depressivity Dysarthria Hyperreflexia Epicanthus Depressed nasal bridge Spasticity Muscular hypotonia Strabismus Nystagmus Growth delay Midface retrusion Areflexia Confusion Respiratory tract infection Dysmetria Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Corneal opacity Broad forehead Pectus carinatum Anxiety Inguinal hernia Arthritis Coarse facial features Skeletal dysplasia Osteopenia Gait ataxia Prominent forehead Recurrent respiratory infections Babinski sign Delayed skeletal maturation Abnormality of the helix Craniofacial hyperostosis Decreased proportion of CD4-positive T cells Melanoma Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Hypopigmented skin patches Cystic hygroma Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Cafe-au-lait spot Exotropia Chronic diarrhea Telangiectasia Multiple lipomas Cellulitis Broad thumb Abnormality of the uterus Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Astrocytoma Arteriovenous malformation Acute myeloid leukemia Megalencephaly Prolactin excess Papilledema Lipoma Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Hamartoma Subcutaneous nodule Overgrowth Abnormality of the rib cage Synostosis of joints Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Cerebral dysmyelination Abnormality of dental structure Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Antineutrophil antibody positivity Progressive joint destruction Lymphoma Carcinoma Abnormal cerebellum morphology Palmoplantar keratoderma Polymicrogyria Joint hypermobility Nausea and vomiting Papule Leukemia Abnormality of the kidney Intellectual disability, moderate Autism Synovial hypertrophy Headache Atrial septal defect Tremor Downslanted palpebral fissures Brachydactyly Low-set ears Failure to thrive Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Reduced muscle fiber alpha sarcoglycan



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